Genetic Study of Sitosterolemia - Tabular View

Tracking Information

First Received Date ^ICMJE

October 18, 1999

Last Updated Date

June 23, 2005

Start Date ^ICMJE

November 1999

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00004481 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Genetic Study of Sitosterolemia

Official Title ^ICMJE

Brief Summary

OBJECTIVES:

I. Identify the genetic defect and fine map the gene that causes sitosterolemia.

Detailed Description

PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history.

Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.

Positive results may be reported to the patient and may influence future treatment.

Study Phase

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Natural History

Condition ^ICMJE

Lipid Metabolism, Inborn Errors
Sitosterolemia

Intervention ^ICMJE

Procedure: genetic testing

Study Arms / Comparison Groups

Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Completed

Enrollment ^ICMJE

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature atherosclerotic disease No family history of premature coronary artery disease Normal or elevated plasma cholesterol levels

Family member of patient with sitosterolemia

Normal volunteer

Gender

Both

Ages

Accepts Healthy Volunteers

Yes

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00004481

Responsible Party

Study ID Numbers ^ICMJE

NCRR-M01RR01070-0470, MUSC-HR-8022

Study Sponsor ^ICMJE

National Center for Research Resources (NCRR)

Collaborators ^ICMJE

Medical University of South Carolina

Investigators ^ICMJE

Study Chair:

Shailesh B. Patel

Medical University of South Carolina

Information Provided By

National Center for Research Resources (NCRR)

Verification Date

January 2004

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP